Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34094 | 102505;102506;102507 | chr2:178534335;178534334;178534333 | chr2:179399062;179399061;179399060 |
| N2AB | 32453 | 97582;97583;97584 | chr2:178534335;178534334;178534333 | chr2:179399062;179399061;179399060 |
| N2A | 31526 | 94801;94802;94803 | chr2:178534335;178534334;178534333 | chr2:179399062;179399061;179399060 |
| N2B | 25029 | 75310;75311;75312 | chr2:178534335;178534334;178534333 | chr2:179399062;179399061;179399060 |
| Novex-1 | 25154 | 75685;75686;75687 | chr2:178534335;178534334;178534333 | chr2:179399062;179399061;179399060 |
| Novex-2 | 25221 | 75886;75887;75888 | chr2:178534335;178534334;178534333 | chr2:179399062;179399061;179399060 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: Y
- RefSeq wild type transcript codon: TAC
- RefSeq wild type template codon: ATG
- Domain: Kinase-1
- Domain position: 282
- Q(SASA): 0.0917
- Predicted PPI site: N
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/H | None | None | None | N | None | 0.421 | 0.402043589563 | gnomAD-4.0.0 | 1.59316E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 0 |
| Y/S | rs1414440071  |
-3.402 | None | N | None | 0.505 | 0.401042353794 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| Y/S | rs1414440071 |
-3.402 | None | N | None | 0.505 | 0.401042353794 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| Y/S | rs1414440071 |
-3.402 | None | N | None | 0.505 | 0.401042353794 | gnomAD-4.0.0 | 1.30194E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.77992E-05 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.8933 | likely_pathogenic | 0.9164 | pathogenic | -2.589 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/C | 0.5511 | ambiguous | 0.5617 | ambiguous | -1.415 | Destabilizing | None | None | None | None | N | 0.439489582 | None | None | N |
| Y/D | 0.95 | likely_pathogenic | 0.967 | pathogenic | -3.246 | Highly Destabilizing | None | None | None | None | N | 0.438622791 | None | None | N |
| Y/E | 0.9713 | likely_pathogenic | 0.9795 | pathogenic | -3.028 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/F | 0.2363 | likely_benign | 0.2492 | benign | -0.7 | Destabilizing | None | None | None | None | N | 0.438796149 | None | None | N |
| Y/G | 0.8433 | likely_pathogenic | 0.8818 | pathogenic | -3.017 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/H | 0.693 | likely_pathogenic | 0.734 | pathogenic | -1.899 | Destabilizing | None | None | None | None | N | 0.438969507 | None | None | N |
| Y/I | 0.8383 | likely_pathogenic | 0.8651 | pathogenic | -1.172 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/K | 0.9397 | likely_pathogenic | 0.9582 | pathogenic | -1.834 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/L | 0.6944 | likely_pathogenic | 0.7264 | pathogenic | -1.172 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/M | 0.8973 | likely_pathogenic | 0.9149 | pathogenic | -0.981 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/N | 0.8 | likely_pathogenic | 0.8516 | pathogenic | -2.681 | Highly Destabilizing | None | None | None | None | N | 0.438449432 | None | None | N |
| Y/P | 0.9775 | likely_pathogenic | 0.9825 | pathogenic | -1.658 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/Q | 0.9169 | likely_pathogenic | 0.9361 | pathogenic | -2.377 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/R | 0.8188 | likely_pathogenic | 0.8455 | pathogenic | -1.791 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/S | 0.7206 | likely_pathogenic | 0.774 | pathogenic | -2.974 | Highly Destabilizing | None | None | None | None | N | 0.437755999 | None | None | N |
| Y/T | 0.9077 | likely_pathogenic | 0.9295 | pathogenic | -2.628 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/V | 0.7759 | likely_pathogenic | 0.8029 | pathogenic | -1.658 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/W | 0.6968 | likely_pathogenic | 0.7206 | pathogenic | -0.102 | Destabilizing | None | None | None | None | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.